Canonical Allele Identifier: CA346531572

Gene: TTC27

Linked Data

• MyVariant Identifiers: chr2:g.32865434G>T (hg19) ; chr2:g.32640367G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32640367G>T , CM000664.2:g.32640367G>T	GRCh38
NC_000002.11:g.32865434G>T , CM000664.1:g.32865434G>T	GRCh37
NC_000002.10:g.32718938G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000317907.9:c.494G>T MANE Select	ENSP00000313953.4:p.Arg165Leu
ENST00000647819.1:c.494G>T	ENSP00000497009.1:p.Arg165Leu
ENST00000317907.8:c.494G>T	ENSP00000313953.4:p.Arg165Leu
ENST00000448773.5:c.344G>T	ENSP00000393327.1:p.Arg115Leu
ENST00000454690.1:c.88+11987G>T	ENSP00000392883.1:n.88+11987G>T
NM_001193509.1:c.344G>T	NP_001180438.1:p.Arg115Leu
NM_017735.4:c.494G>T	NP_060205.3:p.Arg165Leu
XM_005264416.1:c.494G>T	XP_005264473.1:p.Arg165Leu
XM_011532958.1:c.494G>T	XP_011531260.1:p.Arg165Leu
XM_005264416.2:c.494G>T	XP_005264473.1:p.Arg165Leu
XM_011532958.2:c.494G>T	XP_011531260.1:p.Arg165Leu
XR_002959314.1:n.752G>T
NM_017735.5:c.494G>T MANE Select	NP_060205.3:p.Arg165Leu
NM_001193509.2:c.344G>T	NP_001180438.1:p.Arg115Leu